Genetic and environmental risk factors for extramacular drusen.
Aged
Aged, 80 and over
Case-Control Studies
Complement C3
/ analysis
Complement C3d
/ analysis
Databases, Genetic
Female
Humans
Logistic Models
Macula Lutea
/ pathology
Macular Degeneration
/ complications
Male
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Prospective Studies
Retinal Drusen
/ complications
Risk Factors
Tomography, Optical Coherence
Journal
Molecular vision
ISSN: 1090-0535
Titre abrégé: Mol Vis
Pays: United States
ID NLM: 9605351
Informations de publication
Date de publication:
2020
2020
Historique:
received:
08
01
2020
accepted:
02
10
2020
entrez:
22
10
2020
pubmed:
23
10
2020
medline:
21
7
2021
Statut:
epublish
Résumé
To analyze risk factors for extramacular drusen (EMD) in patients with age-related macular degeneration (AMD) and healthy control individuals. This case-control study included 1,520 patients from the prospective multicenter European Genetic Database (EUGENDA). Color fundus photographs and optical coherence tomography scans were evaluated for the presence of AMD and EMD. EMD was considered present if ten or fewer drusen including at least one intermediate-sized drusen were detected outside the macula. Association of EMD was evaluated with various genetic and non-genetic risk factors (31 single nucleotide polymorphisms, systemic complement activation, smoking, cardiovascular factors, and sunlight exposure) using logistic regression models adjusted for age, gender, and AMD. EMD was found in 608 subjects (40%) and AMD in 763 (50%) of 1,520 participants. EMD was strongly associated with AMD (p = 2.83 × 10-63, odds ratio [OR] 7.63). After adjustment for AMD, age (p = 0.06, OR 1.02), female gender (p = 3.34 × 10-24, OR 4.44), history of sunlight exposure ≥ 8 h /day (p = 0.0004, OR 1.99), serum complement activation (p = 0.004, OR 1.61), and polymorphisms in ARMS2 (p = 0.00016, OR 1.43) and CFI (p = 0.043, OR 1.20) were identified as risk factors for EMD. The final prediction model including these variants showed an area under the curve of 0.820. The comprehensive analysis of various risk factors revealed a common genetic and pathological pathway of EMD with AMD. Future longitudinal studies are needed to evaluate the role of EMD in otherwise healthy subjects as an expanded phenotype of AMD.
Substances chimiques
Complement C3
0
Complement C3d
80295-45-0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
661-669Informations de copyright
Copyright © 2020 Molecular Vision.
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